Photosensitivity in Dravet syndrome is under-recognized and related to prognosis

Verbeek, Nienke E.; Trenité, Dorothee Kasteleijn‐Nolst; Wassenaar, Merel; Campen, Jolien van; Sonsma, Anja C. M.; Gunning, W. Boudewijn; Weerd, Al de; Knoers, Nine V A M; Spetgens, Willy P.J.; Gutter, T.; Leijten, Frans S.S.; Brilstra, Eva H.

doi:10.1016/j.clinph.2016.11.021

Cited by 36 publications

(24 citation statements)

References 35 publications

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“…As recently reported by Darra and coauthors, who compared three different groups of patients with DS (born between 1972 and 1990, 1991 and 2000, and 2001 and 2010), the global outcome was more favorable in the younger group, just because of the higher incidence of “incomplete” forms of DS in this group. Actually, in our two series, seizure persistence correlates with the complete/myoclonic phenotype and with the occurrence of reflex seizures as observed originally by Dalla Bernardina and confirmed in following studies …”

Section: Discussionsupporting

confidence: 90%

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

et al. 2019

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To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course.At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age.Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy. K E Y W O R D Sadolescents and adults, complete Dravet syndrome, developmental and epileptic encephalopathy, longterm outcome, myoclonic phenotype, reflex seizures S50 | DARRA et Al.

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Section: Discussionsupporting

confidence: 90%

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

et al. 2019

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“…Photosensitivity and a photo paroxysmal response are prominent in many individuals with Dravet's syndrome and others severely affected and may be a predictor of disease severity. 14…”

Section: Electroencephalographymentioning

confidence: 99%

“…In fact, the first gene to be discovered associated with this GEFSþ was SCN1B affecting the β-1 subunit of the voltagegated sodium channel. 8,14 SCN1A, SCN1B, and GABRG2 round out the top three offenders. Phenotype/genotype associations and clinical predictions have been attempted, with linkages of the GABRG2 with several genetic generalized epilepsies and SCN1B with temporal lobe or other focal seizures.…”

Section: Geneticsmentioning

confidence: 99%

“…Phenotype/genotype associations and clinical predictions have been attempted, with linkages of the GABRG2 with several genetic generalized epilepsies and SCN1B with temporal lobe or other focal seizures. 14,15 Many studies have been observational; therefore, it is unclear if some predictive mutations will stand the test of time. Other implicated genes in the growing number of families with GEFSþ include other sodium channel genes (SCN9A, SCN2A), PCDH19, GABRD, STX1, HCN1, HCN2, FGF13, and more.…”

Section: Geneticsmentioning

confidence: 99%

“…Other implicated genes in the growing number of families with GEFSþ include other sodium channel genes (SCN9A, SCN2A), PCDH19, GABRD, STX1, HCN1, HCN2, FGF13, and more. 8,14,[16][17][18][19] The same genetic variant may present with two distinctive clinical pictures, such as a CHRNA4 causing both paroxysmal kinesigenic dyskinesia in one individual and GEFSþ in another. 20 The inverse is also true with two gene defects expressed within the same individual, such as ANKRD11 and SCN9A presenting with a mild form of Kabuki syndrome and GEFSþ.…”

Section: Geneticsmentioning

confidence: 99%

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Febrile Seizure Plus and PCDH19-Related Epilepsy Syndromes

Ali

2019

J Pediatr Epilepsy

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Epilepsy is a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures. Practically, a patient has epilepsy if having two unprovoked seizures more than 24 hours apart, one unprovoked seizure and significant risk of another seizure, or epilepsy syndrome. Seizures induced by fever do not therefore fit this classification. An initial febrile seizure may therefore cause a false sense of security in children who evolve to febrile seizure plus syndromes. Sodium channel defects seem to predominate as the main causative factor for febrile seizure plus syndromes. More severe pathological variants, such as Dravet's syndrome, have phenotypic similarities to other fever-associated epileptic encephalopathies, including those caused by mutations in protocadherin 19 (PCDH19). The clinical presentations, investigational studies, and management of febrile seizure plus syndrome, as well as epilepsies associated with PCDH19 mutations will be reviewed.

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Peri‐ictal EEG in infants with PRRT2‐related self‐limited infantile epilepsy

Fearn,

Macdonald‐Laurs,

Moylan

et al. 2023

Epileptic Disorders

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ObjectivePathogenic PRRT2 variants cause self‐limited (familial) infantile epilepsy (SeLIE), which is responsive to sodium channel blocking antiseizure medications. The interictal EEG is typically normal. We describe a cohort of infants with PRRT2‐related SeLIE with striking peri‐ictal EEG abnormalities.MethodsWe included all infants diagnosed with PRRT2‐related SeLIE during July 2020 to November 2021 at the Royal Children's Hospital, Melbourne. Clinical features and results of aetiologic investigations were collected from electronic medical records. All EEGs were reviewed independently by two epileptologists.ResultsTen infants presented with focal seizures at a median age of 5 months (range: 3–6 months). Eight had a family history of epilepsy, paroxysmal kinesigenic dyskinesia (PKD) or hemiplegic migraine. Seven of the eight infants with an EEG performed within 24 h of the most recent seizure had epileptiform discharges. Their EEGs showed focal sharp waves, spikes, polyspikes or fast activity independently over the left and right temporo‐occipital regions. Conversely, the two infants with last known seizure greater than 24 h prior to their EEG had no epileptiform discharges. Oxcarbazepine was commenced in two infants and was effective. Eight infants were initially treated with levetiracetam, and all were subsequently switched to oxcarbazepine due to ongoing seizures or side effects.SignificancePosterior polymorphic focal epileptiform discharges on a peri‐ictal EEG recording are a feature of PRRT2‐related SeLIE. This finding, particularly in the presence of a family history of infantile epilepsy, PKD or hemiplegic migraine, suggests a diagnosis of PRRT2‐related SeLIE and has important treatment implications.

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Photosensitivity in Dravet syndrome is under-recognized and related to prognosis

Cited by 36 publications

References 35 publications

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

Febrile Seizure Plus and PCDH19-Related Epilepsy Syndromes

Peri‐ictal EEG in infants with PRRT2‐related self‐limited infantile epilepsy

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